‘We just get on with it day to day’

A five-year-old girl with an extremely rare chromosome disorder is benefitting from a special form of therapy involving horses.

Holly Watson, who recently moved from Rothbury to Longframlington with her mum Jane Wilson and three-year-old brother Sam, has Phelan-McDermid Syndrome (PMS).

Jane Wilson and her daughter Holly

Also known as 22q13 deletion, it is caused by the deletion, or loss, of part of chromosome 22. There are only around 900 known cases in the world, including 80 in the UK.

In the majority of cases, the SHANK3 gene, which supports the structure of synapses and is involved in processes crucial for learning and memory, is lost.

There is a wide range of severity of symptoms observed in people with PMS. Like other autism-related syndromes, it is associated with intellectual disabilities, sleep disorders and seizures.

In Holly’s case, she has quite severe developmental delay and one of the key things is she’s non-verbal.

Mum Jane said: “It’s quite well-known in the syndrome that some people never speak so we don’t know how that’s going to work. It’s on a spectrum like autism and Holly is at the better end, so we have to wait and see. She doesn’t understand danger, consequence or risk.

“She needs keeping an eye on all the time to see what she’s doing or what she’s putting in her mouth.”

It was only fully diganosed last year as initially doctors say a child has global development delay, but eventually a full chromosome screen revealed the specific condition.

There is no cure and it’s a permanent condition as genes are missing, but Jane is coping as well as can be expected.

“You just get on with it day to day and it’s just little steps of development,” she said.

“It’s challenging, but it is what it is and it becomes your normality. I have good family support and a good friends networks and we get respite.”

Plus her little brother Sam is very good with Holly. “He’s very sweet,” Jane said.

“He takes her by the hand and helps me out and lets me know when she’s doing something she shouldn’t. He says things like, ‘My sister doesn’t speak’, before I have to explain.”

Holly, who turns six shortly, is a pupil at Barndale School in Alnwick, which Jane says is ‘the best place for her’.

“We started with Rothbury First School then split between the two schools and we decided last year she needed to be in the school which suited her needs best, particularly with speech and language skills,” she added.

And one thing that definitely is helping is hippotherapy, which Holly has been doing for more than a year now.

As reported by the Gazette, Angela Torsch, from Bilton, set up Hippotherapy Northumberland, based at at Shilbottle’s Townfoot Stables, last summer.

It is a form of therapy in which a therapist uses the characteristic movements of a horse to provide carefully-graded motor and sensory input and a treatment approach which uses activities on the horse that are meaningful to the client and specifically address the individual’s goals.

“She really settles in and she’s quite active,” said Jane. “It relaxes her and she pays attention and joins in with whole session. “Anything extra you can do to help with her speech and development – definitely it’s a really great thing.

Jane recently received support from the people behind Simonside Country Fair and Hay Show, who doled out the proceeds of the event to a number of good causes and organisations in the area at a presentation at the Gate pub in Forestburn Gate two weeks ago.

Jane said: “They have given money for two courses of hippotherapy. It was a really lovely afternoon. I was very touched, it was very kind.”